Phenylketonuria News and Research

There are 20 essential amino acids in the body. Phenylalanine is one of these. These essential amino acids need to be supplied from external sources such as food. They are termed “essential” as they are needed for the body to function properly and grow normally.

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Investigators at the UC Davis MIND Institute and NeuroPointDX, a division of Stemina Biomarker Discovery, have identified a group of blood metabolites that could help detect some children with autism spectrum disorder

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

All children are screened for a host of conditions at birth, such as Phenylketonuria (PKU), a genetic disorder that is passed by mutated genes from both parents to their offspring. PKU is rare, only affecting one in every 10,000 children in the U.S.; therefore, it is seldom studied.

Flagship Ventures, a leading innovation and venture firm focused on healthcare and sustainability, announced it has launched Rubius Therapeutics, to develop functionalized red blood cells for the treatment of autoimmune conditions, metabolic diseases, cancer, and other serious diseases.

Intrexon Corporation, a leader in synthetic biology, and Synthetic Biologics, Inc., a clinical-stage company focused on developing therapeutics to protect the microbiome while targeting pathogen-specific diseases, today announced an Exclusive Channel Collaboration (ECC) to pursue the development and commercialization of novel biotherapeutics for the treatment of patients with phenylketonuria (PKU), a serious and debilitating metabolic disorder.

When your baby was born you likely heard a loud cry and examined your baby to make sure he/she had a full set of adorable fingers and toes. But just imagine a few days after you arrive home, your phone rings: your baby has screened positive for a genetic disorder.

Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

Researchers have created an application that enables cell phones and other portable devices to translate foreign-language food menus for English speakers and could be used for people who must follow restricted diets for medical reasons.

Virtually all processes in the human body rely on a unique class of proteins known as enzymes. To study them, scientists want to attach these molecules to surfaces and hold them fast, but this can often be a tricky undertaking.

State laws and policies governing the storage and use of surplus blood samples taken from newborns as part of the routine health screening process range from explicit to non-existent, leaving many parents ill-informed about how their babies' left over blood might be used, according to a team led by a member of the Johns Hopkins Berman Institute of Bioethics, in collaboration with researchers from the University of Utah. A report on their analysis of the subject is published March 28 in the journal Pediatrics.

Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

PKU specialists around the world can now count on a brand-new, authoritative website entirely dedicated to this rare genetic disorder, which affects one out of every 10,000 to 20,000 live births worldwide.

BioMarin Pharmaceutical Inc. announced today that the first subject has initiated treatment in a Phase 3b study (PKU-016) to evaluate the effects of Kuvan (sapropterin dihydrochloride) on neuropsychiatric symptoms in subjects with phenylketonuria (PKU). BioMarin expects to report results in the first half of 2012.

BioMarin Pharmaceutical Inc. announced today an update in the Phase 2 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (PKU). Data reported in this announcement reflect preliminary results as of July 23, 2010. Complete top-line results are expected in the fourth quarter of 2010.

There have been clear statements from regulatory bodies that have increased the pressure on pharmaceutical companies to go electronic with their records and ensure a high level of data integrity in all areas of the pharmaceutical industry.

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